Do you sometimes experience numbness in your limbs? Do you have stomach pain or dizziness when you stand up? Although these may seem like normal things, sometimes what is hidden behind this may be a rare disease that many people have not even heard of, and which is passed down through generations. Today we will talk about one such disease, hATTR amyloidosis . Although this is a somewhat complex topic, let's understand it simply.
What is hATTR Amyloidosis?
Simply put, hATTR (Hereditary Transthyretin Amyloidosis) is a rare disease that is passed down from generation to generation and gradually worsens over time. The cause is a change in our genes, called a mutation.
Imagine that everything in our body is controlled by genes. There is a gene called TTR in our liver. When there is a mutation in this gene, the protein called 'transthyretin' that is produced by it also takes on an abnormal, wrong shape.
These misshapen proteins clump together and form deposits called ' amyloid ' in our body's nerves and various organs. Just like dirt and rust clog a water pipe, these amyloid deposits damage those organs.
This condition causes polyneuropathy, which is damage to the nerves that run from the brain to other parts of the body. Although this is a serious condition, with proper treatment, symptoms can be controlled and life can be continued.
What are the symptoms of hATTR disease?
Because hATTR disease affects multiple organs in the body, the symptoms are very diverse. Sometimes these symptoms are similar to those of other common diseases, so it can be difficult to diagnose the disease.
See the table below for what these symptoms are.
| Affected system/organ | Possible symptoms |
|---|---|
| Nervous System | Numbness, tingling, pain, and then loss of sensation in the hands and feet. Carpal Tunnel Syndrome. Difficulty walking. |
| Heart & Circulation | Irregular heartbeat, enlarged heart, heart attack. Low blood pressure and fainting when standing up. |
| Digestive System | Alternating diarrhea and constipation for no reason. Feeling full even after eating a little. Weight loss. |
| Kidneys & Urinary System | Difficulty urinating. Impaired kidney function. |
| Eyes | Dry eyes, increased eye pressure (glaucoma), blurred vision. |
Remember, many of these symptoms can be life-threatening, especially heart problems. So if you have any of these symptoms, especially if someone in your family has had this disease, see a doctor immediately.
How is hATTR disease diagnosed?
Because this disease is rare and the symptoms are similar to other diseases, it can be a bit challenging to diagnose. But the doctor focuses on a few things.
- Family medical history : Ask if anyone in your family has had heart attacks, heart muscle thickening, or other neurological disorders.
- Questioning about symptoms: Asking if you have the symptoms mentioned above.
- Genetic Testing: A blood sample or skin cell sample is tested to see if there is a mutation in the TTR gene. This is the most definitive way to confirm the disease.
- Tissue Biopsy : A small amount of fat from under the skin of the abdomen is taken with a small needle and examined under a microscope to see if there are any amyloid deposits. Don't worry, this is not a major operation and can be done quickly.
- Other tests: Blood and urine tests, nerve function tests, and heart function tests such as ECG and Echo may also be performed.
What are the treatments for hATTR?
There are two main goals in treating hATTR disease. One is to control symptoms, and the other is to reduce or stop the production and deposition of the faulty protein in the body.
Treatment for symptoms
- Medication is given for heart problems and fluid accumulation in the body .
- Medicines are given for digestive system problems such as diarrhea and constipation.
- Medications are used to control nerve pain.
Treatment aimed at the cause of the disease
These are the main treatments that can change the course of the disease.
- Gene Silencer Drugs: These drugs work by stopping the TTR gene in the liver from producing the wrong protein. `Inotersen`, `Patisiran`, `Vutrisiran` are some of these drugs. Some of these are available as weekly injections, while others are given intravenously every 3 weeks.
- Gene Stabilizer Drugs: These drugs work by preventing the misfolded TTR protein from clumping together and forming amyloid deposits. `Tafamidis` and `Diflunisal` are drugs in this class.
- Liver Transplant: Since the faulty protein is produced in the liver, a liver transplant can largely control the spread of the disease. However, this is a major surgery. And it is only successful in the early stages of the disease.
The medical team that helps you
Because this disease affects multiple parts of the body, you will need the help of multiple specialists.
| Specialist doctor | The help they receive |
|---|---|
| Neurologist | To manage nerve damage and pain. |
| Cardiologist | To monitor the effects on the heart and provide necessary treatment. |
| Nephrologist | To check kidney function and help protect it. |
| Genetic Counselor | Explain how this disease affects you and your family. |
| Physical Therapist | To provide exercises to ease walking difficulties and body movements. |
Take-Home Message
- hATTR is a serious genetic disease that worsens over time.
- If you have symptoms like numbness in your limbs, heart disease, or stomach upset, especially if someone in your family has had this disease, don't take it lightly.
- The sooner this disease is diagnosed, the better the results of treatment.
- Now there are very effective medications and treatments to control this disease. So there is no need to be afraid.
- If you have any questions about this disease, don't be afraid to talk to your doctor.
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